Bannayan-Riley-Ruvalcaba syndrome: Difference between revisions

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__NOTOC__
__NOTOC__
{{SI}}
{{Bannayan-Riley-Ruvalcaba syndrome}}
{{CMG}}; {{AE}} {{VKG}}<ref name="pmid12119278">{{cite journal |vauthors=Eng C |title=Role of PTEN, a lipid phosphatase upstream effector of protein kinase B, in epithelial thyroid carcinogenesis |journal=Ann. N. Y. Acad. Sci. |volume=968 |issue= |pages=213–21 |date=June 2002 |pmid=12119278 |doi= |url=}}</ref>
{{CMG}}; {{AE}} {{VKG}}


{{SK}} Ruvalcaba-Myhre syndrome, Ruvalcaba-Myhre-Smith syndrome, Riley-Smith syndrome, Bannayan syndrome, or Bannayan-Zonana syndrome
{{SK}} BRRS, Ruvalcaba-Myhre syndrome, Ruvalcaba-Myhre-Smith syndrome, Riley-Smith syndrome, Bannayan syndrome, or Bannayan-Zonana syndrome


==Overview==
==Overview==
[[File:Bannayan-Riley-Ruvalcaba syndrome.png|alt=Autosomal dominant|thumb|'''Bannayan-Riley-Ruvalcaba syndrome'''https://commons.wikimedia.org/wiki/File:Autosomal_dominant_-_en.svg#/media/File:Autosomal_dominant_-_en.svg]]
{| align="right"
Bannayan-Zonana syndrome is a rare [[hamartomatous]] disorder with occurrence of multiple [[subcutaneous]] [[lipoma]]s, [[macrocephaly]] and [[hemangioma]]s.
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[[File:Bannayan-Riley-Ruvalcaba syndrome.png|thumb|'''Bannayan-Riley-Ruvalcaba syndrome''' <ref>{{Cite web|url=https://commons.wikimedia.org/wiki/File:Autosomal_dominant_-_en.svg#/media/File:Autosomal_dominant_-_en.svg|title=Autosomal dominant pattern in BRRS|last=|first=|date=|website=|archive-url=|archive-date=|dead-url=|access-date=}}</ref>]]
|}
(BRRS)/Bannayan-Zonana syndrome is a rare [[hamartomatous]] disorder with occurrence of multiple [[subcutaneous]] [[lipoma]]s, [[macrocephaly]] and [[hemangioma]]s. Bannayan-Riley-Ruvalcaba syndrome (BRRS) is transmitted in [[autosomal dominant]] pattern. Bannayan-Riley-Ruvalcaba syndrome (BRRS) was first discovered by Ruvalcaba, in 1980. It is understood that Bannayan-Riley-Ruvalcaba syndrome (BRRS) is caused by [[Genetics|genetic]] [[mutations]]. The [[Symptom|symptoms]] of BRRS usually develop in the first decade of life. The [[prognosis]] is unknown for Bannayan-Riley-Ruvalcaba syndrome (BRRS). Bannayan-Riley-Ruvalcaba syndrome must be differentiated from [[CLOVES syndrome|CLOVE]] syndromes. The [[incidence]] of Bannayan-Riley-Ruvalcaba syndrome is approximately 1 per 200,000 individuals worldwide. Head [[Magnetic resonance imaging|MRI]] may be helpful in the [[diagnosis]] of Bannayan-Riley-Ruvalcaba syndrome. There is no treatment for Bannayan-Riley-Ruvalcaba syndrome.


==Historical Perspective==
==Historical Perspective ==
* [[Bannayan-Riley-Ruvalcaba syndrome]] (BRRS) was first discovered by Ruvalcaba, in 1980.<ref name="pmid28401059">{{cite journal |vauthors=Lee SH, Ryoo E, Tchah H |title=Bannayan-Riley-Ruvalcaba Syndrome in a Patient with a PTEN Mutation Identified by Chromosomal Microarray Analysis: A Case Report |journal=Pediatr Gastroenterol Hepatol Nutr |volume=20 |issue=1 |pages=65–70 |date=March 2017 |pmid=28401059 |pmc=5385310 |doi=10.5223/pghn.2017.20.1.65 |url=}}</ref>
* Bannayan-Riley-Ruvalcaba syndrome (BRRS) was first discovered by Ruvalcaba, in 1980.<ref name="pmid28401059">{{cite journal |vauthors=Lee SH, Ryoo E, Tchah H |title=Bannayan-Riley-Ruvalcaba Syndrome in a Patient with a PTEN Mutation Identified by Chromosomal Microarray Analysis: A Case Report |journal=Pediatr Gastroenterol Hepatol Nutr |volume=20 |issue=1 |pages=65–70 |date=March 2017 |pmid=28401059 |pmc=5385310 |doi=10.5223/pghn.2017.20.1.65 |url=}}</ref>
* [[Bannayan-Riley-Ruvalcaba syndrome]] was also mentioned with different names previously by different doctors thinking that they were describing a new condition and the names are as follows:  
* Bannayan-Riley-Ruvalcaba syndrome was also mentioned with different names previously by different doctors thinking that they were describing a new condition and the names are as follows:  
** Ruvalcaba-Myhre syndrome
** Ruvalcaba-Myhre syndrome
** Riley-Smith syndrome  
** Riley-Smith syndrome  
** Bannayan-Zonana syndrome
** Bannayan-Zonana syndrome


* The overlap of symptoms between [[Cowden syndrome]] and Bannayan-Ruvalcaba-Riley syndrome was made in 1996.<ref name="pmid175268002">{{cite journal |vauthors=Lachlan KL, Lucassen AM, Bunyan D, Temple IK |title=Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers |journal=J. Med. Genet. |volume=44 |issue=9 |pages=579–85 |date=September 2007 |pmid=17526800 |pmc=2597943 |doi=10.1136/jmg.2007.049981 |url=}}</ref>
* The overlap of [[Symptom|symptoms]] between [[Cowden syndrome]] and Bannayan-Ruvalcaba-Riley syndrome was made in 1996.<ref name="pmid175268002">{{cite journal |vauthors=Lachlan KL, Lucassen AM, Bunyan D, Temple IK |title=Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers |journal=J. Med. Genet. |volume=44 |issue=9 |pages=579–85 |date=September 2007 |pmid=17526800 |pmc=2597943 |doi=10.1136/jmg.2007.049981 |url=}}</ref>
*
*


==Classification==
==Classification==
* There is no established system for the [[classification]] of [[Bannayan-Riley-Ruvalcaba syndrome]] (BRRS) .
* There is no established system for the [[classification]] of Bannayan-Riley-Ruvalcaba syndrome (BRRS) .


==Pathophysiology==
==Pathophysiologya==
* Bannayan-Riley-Ruvalcaba syndrome (BRRS) is transmitted in [[autosomal dominant]] pattern, but sporadic cases have been reported.
* Bannayan-Riley-Ruvalcaba syndrome (BRRS) is transmitted in [[autosomal dominant]] pattern, but sporadic cases have been reported.
* The disease belongs to a family of [[hamartomatous]] [[polyposis]] [[syndromes]], which also includes [[Peutz-Jeghers syndrome]], [[juvenile polyposis]] and [[Cowden syndrome]].
* The [[disease]] belongs to a family of [[hamartomatous]] [[polyposis]] [[syndromes]], which also includes [[Peutz-Jeghers syndrome]], [[juvenile polyposis]] and [[Cowden syndrome]].
* It is understood that [[Bannayan-Riley-Ruvalcaba syndrome]] (BRRS) is the result caused by  the following gene [[mutations]]:<ref name="pmid10923032">{{cite journal |vauthors=Bonneau D, Longy M |title=Mutations of the human PTEN gene |journal=Hum. Mutat. |volume=16 |issue=2 |pages=109–22 |date=2000 |pmid=10923032 |doi=10.1002/1098-1004(200008)16:2<109::AID-HUMU3>3.0.CO;2-0 |url=}}</ref><ref name="pmid21659347">{{cite journal |vauthors=Pilarski R, Stephens JA, Noss R, Fisher JL, Prior TW |title=Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features |journal=J. Med. Genet. |volume=48 |issue=8 |pages=505–12 |date=August 2011 |pmid=21659347 |doi=10.1136/jmg.2011.088807 |url=}}</ref><ref name="pmid17526800">{{cite journal |vauthors=Lachlan KL, Lucassen AM, Bunyan D, Temple IK |title=Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers |journal=J. Med. Genet. |volume=44 |issue=9 |pages=579–85 |date=September 2007 |pmid=17526800 |pmc=2597943 |doi=10.1136/jmg.2007.049981 |url=}}</ref>
* It is understood that Bannayan-Riley-Ruvalcaba syndrome (BRRS) is the result caused by  the following [[gene]] [[mutations]]:<ref name="pmid10923032">{{cite journal |vauthors=Bonneau D, Longy M |title=Mutations of the human PTEN gene |journal=Hum. Mutat. |volume=16 |issue=2 |pages=109–22 |date=2000 |pmid=10923032 |doi=10.1002/1098-1004(200008)16:2<109::AID-HUMU3>3.0.CO;2-0 |url=}}</ref><ref name="pmid21659347">{{cite journal |vauthors=Pilarski R, Stephens JA, Noss R, Fisher JL, Prior TW |title=Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features |journal=J. Med. Genet. |volume=48 |issue=8 |pages=505–12 |date=August 2011 |pmid=21659347 |doi=10.1136/jmg.2011.088807 |url=}}</ref><ref name="pmid17526800">{{cite journal |vauthors=Lachlan KL, Lucassen AM, Bunyan D, Temple IK |title=Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers |journal=J. Med. Genet. |volume=44 |issue=9 |pages=579–85 |date=September 2007 |pmid=17526800 |pmc=2597943 |doi=10.1136/jmg.2007.049981 |url=}}</ref>
** [[Germline]] [[phosphatase]] and  
**[[Germline]] [[phosphatase]] and
** Tensin homolog (''[[PTEN (gene)|PTEN]]'') [[mutations]].
** Tensin homolog (''[[PTEN (gene)|PTEN]]'') [[mutations]].
* Patients who have [[Bannayan-Riley-Ruvalcaba syndrome]] (BRRS), have a positive association with ''[[PTEN (gene)|PTEN]]'' [[mutations]] in 55 to 60 % of cases.<ref name="pmid10400993">{{cite journal |vauthors=Marsh DJ, Kum JB, Lunetta KL, Bennett MJ, Gorlin RJ, Ahmed SF, Bodurtha J, Crowe C, Curtis MA, Dasouki M, Dunn T, Feit H, Geraghty MT, Graham JM, Hodgson SV, Hunter A, Korf BR, Manchester D, Miesfeldt S, Murday VA, Nathanson KL, Parisi M, Pober B, Romano C, Eng C |title=PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome |journal=Hum. Mol. Genet. |volume=8 |issue=8 |pages=1461–72 |date=August 1999 |pmid=10400993 |doi= |url=}}</ref>
*[[Patient|Patients]] who have Bannayan-Riley-Ruvalcaba syndrome (BRRS), have a positive association with ''[[PTEN (gene)|PTEN]]'' [[mutations]] in 55 to 60 % of cases.<ref name="pmid10400993">{{cite journal |vauthors=Marsh DJ, Kum JB, Lunetta KL, Bennett MJ, Gorlin RJ, Ahmed SF, Bodurtha J, Crowe C, Curtis MA, Dasouki M, Dunn T, Feit H, Geraghty MT, Graham JM, Hodgson SV, Hunter A, Korf BR, Manchester D, Miesfeldt S, Murday VA, Nathanson KL, Parisi M, Pober B, Romano C, Eng C |title=PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome |journal=Hum. Mol. Genet. |volume=8 |issue=8 |pages=1461–72 |date=August 1999 |pmid=10400993 |doi= |url=}}</ref>
* [[PTEN (gene)|PTEN]] track backs to 10q23 which encodes and plays a significant role in the following:<ref name="BhargavaAu Yong2013">{{cite journal|last1=Bhargava|first1=R.|last2=Au Yong|first2=K. J.|last3=Leonard|first3=N.|title=Bannayan-Riley-Ruvalcaba Syndrome: MRI Neuroimaging Features in a Series of 7 Patients|journal=American Journal of Neuroradiology|volume=35|issue=2|year=2013|pages=402–406|issn=0195-6108|doi=10.3174/ajnr.A3680}}</ref><ref name="pmid12938083">{{cite journal |vauthors=Eng C |title=PTEN: one gene, many syndromes |journal=Hum. Mutat. |volume=22 |issue=3 |pages=183–98 |date=September 2003 |pmid=12938083 |doi=10.1002/humu.10257 |url=}}</ref>
* [[PTEN (gene)|PTEN]] track backs to 10q23 which encodes and plays a significant role in the following:<ref name="BhargavaAu Yong2013">{{cite journal|last1=Bhargava|first1=R.|last2=Au Yong|first2=K. J.|last3=Leonard|first3=N.|title=Bannayan-Riley-Ruvalcaba Syndrome: MRI Neuroimaging Features in a Series of 7 Patients|journal=American Journal of Neuroradiology|volume=35|issue=2|year=2013|pages=402–406|issn=0195-6108|doi=10.3174/ajnr.A3680}}</ref><ref name="pmid12938083">{{cite journal |vauthors=Eng C |title=PTEN: one gene, many syndromes |journal=Hum. Mutat. |volume=22 |issue=3 |pages=183–98 |date=September 2003 |pmid=12938083 |doi=10.1002/humu.10257 |url=}}</ref>
** [[Phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase|Phosphatidylinositol 3,4,5-triphosphate]], a [[phospholipid]] in the [[phosphatidylinositol]] 3-[[kinase]] pathway/Akt pathway
**[[Phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase|Phosphatidylinositol 3,4,5-triphosphate]], a [[phospholipid]] in the [[phosphatidylinositol]] 3-kinase pathway/Akt pathway
** Effects [[G1]] [[cell cycle]] arrest and [[apoptosis]]
** Effects [[G1]] [[cell cycle]] arrest and [[apoptosis]]
** [[Cellular]] [[proliferation]] and
**[[Cellular]] [[proliferation]] and
** Migration
** Migration
***


==Causes==
==Causes==
{| align="right"
|
[[File:PTEN Gene.jpg|alt=PTEN Gene|thumb|'''PTEN Gene'''<ref>{{Cite web|url=Public Domain, https://commons.wikimedia.org/w/index.php?curid=2234618|title=PTEn gene|last=|first=|date=|website=|archive-url=|archive-date=|dead-url=|access-date=}}</ref> ]]
|}
'''Genetic Cause'''
'''Genetic Cause'''
* [[Bannayan-Riley-Ruvalcaba syndrome]] (BRRS) is caused by a [[mutation]] in the [[phosphatase]] and tensin [[homolog]] (''[[PTEN (gene)|PTEN]])'' [[gene]].<ref name="pmid12844284">{{cite journal |vauthors=Zhou XP, Waite KA, Pilarski R, Hampel H, Fernandez MJ, Bos C, Dasouki M, Feldman GL, Greenberg LA, Ivanovich J, Matloff E, Patterson A, Pierpont ME, Russo D, Nassif NT, Eng C |title=Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway |journal=Am. J. Hum. Genet. |volume=73 |issue=2 |pages=404–11 |date=August 2003 |pmid=12844284 |pmc=1180378 |doi=10.1086/377109 |url=}}</ref><ref name="pmid18781191">{{cite journal |vauthors=Blumenthal GM, Dennis PA |title=PTEN hamartoma tumor syndromes |journal=Eur. J. Hum. Genet. |volume=16 |issue=11 |pages=1289–300 |date=November 2008 |pmid=18781191 |doi=10.1038/ejhg.2008.162 |url=}}</ref><ref name="PoropatMaschio2015">{{cite journal|last1=Poropat|first1=Federico|last2=Maschio|first2=Massimo|last3=Martelossi|first3=Stefano|last4=Ventura|first4=Alessandro|last5=Taddio|first5=Andrea|title=Bannayan-Riley-Ruvalcaba Syndrome|journal=Journal of Pediatric Gastroenterology and Nutrition|volume=60|issue=6|year=2015|pages=e48|issn=0277-2116|doi=10.1097/MPG.0b013e31829ef86f}}</ref><ref name="pmid145741564">{{cite journal |vauthors=Hendriks YM, Verhallen JT, van der Smagt JJ, Kant SG, Hilhorst Y, Hoefsloot L, Hansson KB, van der Straaten PJ, Boutkan H, Breuning MH, Vasen HF, Bröcker-Vriends AH |title=Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases |journal=Fam. Cancer |volume=2 |issue=2 |pages=79–85 |date=2003 |pmid=14574156 |doi= |url=}}</ref><ref name="pmid129380834">{{cite journal |vauthors=Eng C |title=PTEN: one gene, many syndromes |journal=Hum. Mutat. |volume=22 |issue=3 |pages=183–98 |date=September 2003 |pmid=12938083 |doi=10.1002/humu.10257 |url=}}</ref><ref name="pmid12372056">{{cite journal |vauthors=Figer A, Kaplan A, Frydman M, Lev D, Paswell J, Papa MZ, Goldman B, Friedman E |title=Germline mutations in the PTEN gene in Israeli patients with Bannayan-Riley-Ruvalcaba syndrome and women with familial breast cancer |journal=Clin. Genet. |volume=62 |issue=4 |pages=298–302 |date=October 2002 |pmid=12372056 |doi= |url=}}</ref>
* Bannayan-Riley-Ruvalcaba syndrome (BRRS) is caused by a [[mutation]] in the [[phosphatase]] and tensin [[homolog]] (''[[PTEN (gene)|PTEN]])'' [[gene]].<ref name="pmid12844284">{{cite journal |vauthors=Zhou XP, Waite KA, Pilarski R, Hampel H, Fernandez MJ, Bos C, Dasouki M, Feldman GL, Greenberg LA, Ivanovich J, Matloff E, Patterson A, Pierpont ME, Russo D, Nassif NT, Eng C |title=Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway |journal=Am. J. Hum. Genet. |volume=73 |issue=2 |pages=404–11 |date=August 2003 |pmid=12844284 |pmc=1180378 |doi=10.1086/377109 |url=}}</ref><ref name="pmid18781191">{{cite journal |vauthors=Blumenthal GM, Dennis PA |title=PTEN hamartoma tumor syndromes |journal=Eur. J. Hum. Genet. |volume=16 |issue=11 |pages=1289–300 |date=November 2008 |pmid=18781191 |doi=10.1038/ejhg.2008.162 |url=}}</ref><ref name="PoropatMaschio2015">{{cite journal|last1=Poropat|first1=Federico|last2=Maschio|first2=Massimo|last3=Martelossi|first3=Stefano|last4=Ventura|first4=Alessandro|last5=Taddio|first5=Andrea|title=Bannayan-Riley-Ruvalcaba Syndrome|journal=Journal of Pediatric Gastroenterology and Nutrition|volume=60|issue=6|year=2015|pages=e48|issn=0277-2116|doi=10.1097/MPG.0b013e31829ef86f}}</ref><ref name="pmid145741564">{{cite journal |vauthors=Hendriks YM, Verhallen JT, van der Smagt JJ, Kant SG, Hilhorst Y, Hoefsloot L, Hansson KB, van der Straaten PJ, Boutkan H, Breuning MH, Vasen HF, Bröcker-Vriends AH |title=Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases |journal=Fam. Cancer |volume=2 |issue=2 |pages=79–85 |date=2003 |pmid=14574156 |doi= |url=}}</ref><ref name="pmid129380834">{{cite journal |vauthors=Eng C |title=PTEN: one gene, many syndromes |journal=Hum. Mutat. |volume=22 |issue=3 |pages=183–98 |date=September 2003 |pmid=12938083 |doi=10.1002/humu.10257 |url=}}</ref><ref name="pmid12372056">{{cite journal |vauthors=Figer A, Kaplan A, Frydman M, Lev D, Paswell J, Papa MZ, Goldman B, Friedman E |title=Germline mutations in the PTEN gene in Israeli patients with Bannayan-Riley-Ruvalcaba syndrome and women with familial breast cancer |journal=Clin. Genet. |volume=62 |issue=4 |pages=298–302 |date=October 2002 |pmid=12372056 |doi= |url=}}</ref>
* Different types of [[mutations]] occurs in ''[[PTEN (gene)|PTEN]]'' [[gene]] and are as follows'':''
* Different types of [[mutations]] occurs in [[PTEN (gene)|PTEN gene]] and are as follows'':''
[[File:PTEN Gene.jpg|alt=PTEN Gene|thumb|'''PTEN Gene''' Public Domain, <nowiki>https://commons.wikimedia.org/w/index.php?curid=2234618</nowiki>]]
**[[Germline]] intragenic [[mutations]] in [[PTEN (gene)|PTEN gene]]
* [[Germline]] intragenic [[mutations]] in ''[[PTEN (gene)|PTEN]]'' [[gene]]
** Gross [[gene]] [[Deletion|deletions]] in [[PTEN (gene)|PTEN gene]]
* Gross [[gene]] [[Deletion|deletions]] in ''[[PTEN (gene)|PTEN]]'' [[gene]]
** [[Mutations]] in the [[PTEN (gene)|PTEN gene]] [[Promoter region|promoter]] region results in [[heterozygous]] [[Germline mutation|germline mutations]]
* [[Mutations]] in the ''[[PTEN (gene)|PTEN]]'' gene [[Promoter region|promoter]] region results in [[heterozygous]] [[Germline mutation|germline mutations]]
** [[Deletion (genetics)|Deletion]] in [[exons]] 1-5 of [[PTEN (gene)|PTEN gene]]
* [[Deletion (genetics)|Deletion]] in [[exons]] 1-5 of ''[[PTEN (gene)|PTEN]]'' [[gene]]


==Differentiating {{PAGENAME}} from Other Diseases==
==Differentiating {{PAGENAME}} from Other Diseases==
* [[Bannayan-Riley-Ruvalcaba syndrome]] must be differentiated from [[CLOVES syndrome|CLOVE]] syndrome which include the following:<ref name="pmid19011570">{{cite journal |vauthors=Alomari AI |title=Characterization of a distinct syndrome that associates complex truncal overgrowth, vascular, and acral anomalies: a descriptive study of 18 cases of CLOVES syndrome |journal=Clin. Dysmorphol. |volume=18 |issue=1 |pages=1–7 |date=January 2009 |pmid=19011570 |doi=10.1097/MCD.0b013e328317a716 |url=}}</ref><ref name="pmid17963221">{{cite journal |vauthors=Sapp JC, Turner JT, van de Kamp JM, van Dijk FS, Lowry RB, Biesecker LG |title=Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients |journal=Am. J. Med. Genet. A |volume=143A |issue=24 |pages=2944–58 |date=December 2007 |pmid=17963221 |doi=10.1002/ajmg.a.32023 |url=}}</ref><ref name="pmid28571234">{{cite journal |vauthors=Acosta S, Torres V, Paulos M, Cifuentes I |title=CLOVES Syndrome: Severe Neonatal Presentation |journal=J Clin Diagn Res |volume=11 |issue=4 |pages=TR01–TR03 |date=April 2017 |pmid=28571234 |pmc=5449880 |doi=10.7860/JCDR/2017/23801.9719 |url=}}</ref><ref name="pmid29231959">{{cite journal |vauthors=Michel ME, Konczyk DJ, Yeung KS, Murillo R, Vivero MP, Hall AM, Zurakowski D, Adams D, Gupta A, Huang AY, Chung BHY, Warman ML |title=Causal somatic mutations in urine DNA from persons with the CLOVES subgroup of the PIK3CA-related overgrowth spectrum |journal=Clin. Genet. |volume=93 |issue=5 |pages=1075–1080 |date=May 2018 |pmid=29231959 |doi=10.1111/cge.13195 |url=}}</ref>
* Bannayan-Riley-Ruvalcaba syndrome must be differentiated from [[CLOVES syndrome|CLOVE]] syndrome which include the following:<ref name="pmid19011570">{{cite journal |vauthors=Alomari AI |title=Characterization of a distinct syndrome that associates complex truncal overgrowth, vascular, and acral anomalies: a descriptive study of 18 cases of CLOVES syndrome |journal=Clin. Dysmorphol. |volume=18 |issue=1 |pages=1–7 |date=January 2009 |pmid=19011570 |doi=10.1097/MCD.0b013e328317a716 |url=}}</ref><ref name="pmid17963221">{{cite journal |vauthors=Sapp JC, Turner JT, van de Kamp JM, van Dijk FS, Lowry RB, Biesecker LG |title=Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients |journal=Am. J. Med. Genet. A |volume=143A |issue=24 |pages=2944–58 |date=December 2007 |pmid=17963221 |doi=10.1002/ajmg.a.32023 |url=}}</ref><ref name="pmid28571234">{{cite journal |vauthors=Acosta S, Torres V, Paulos M, Cifuentes I |title=CLOVES Syndrome: Severe Neonatal Presentation |journal=J Clin Diagn Res |volume=11 |issue=4 |pages=TR01–TR03 |date=April 2017 |pmid=28571234 |pmc=5449880 |doi=10.7860/JCDR/2017/23801.9719 |url=}}</ref><ref name="pmid29231959">{{cite journal |vauthors=Michel ME, Konczyk DJ, Yeung KS, Murillo R, Vivero MP, Hall AM, Zurakowski D, Adams D, Gupta A, Huang AY, Chung BHY, Warman ML |title=Causal somatic mutations in urine DNA from persons with the CLOVES subgroup of the PIK3CA-related overgrowth spectrum |journal=Clin. Genet. |volume=93 |issue=5 |pages=1075–1080 |date=May 2018 |pmid=29231959 |doi=10.1111/cge.13195 |url=}}</ref>
** [[Congenital]] [[Lipoma|lipomatous]] overgrowth
**[[Congenital]] [[Lipoma|lipomatous]] overgrowth
** [[Vascular malformations]]  
** [[Vascular malformations]]  
** [[Epidermal]] [[nevi]] and
** [[Epidermal]] [[nevi]] and
Line 60: Line 63:


=== Incidence ===
=== Incidence ===
* The [[incidence]] of [[Bannayan-Riley-Ruvalcaba syndrome]] is approximately 1 per 200,000 individuals worldwide.<ref name="pmid26157835">{{cite journal |vauthors=Sagi SV, Ballard DD, Marks RA, Dunn KR, Kahi CJ |title=Bannayan Ruvalcaba Riley Syndrome |journal=ACG Case Rep J |volume=1 |issue=2 |pages=90–2 |date=January 2014 |pmid=26157835 |doi=10.14309/crj.2014.11 |url=}}</ref><ref name="pmid15667510">{{cite journal |vauthors=Schreibman IR, Baker M, Amos C, McGarrity TJ |title=The hamartomatous polyposis syndromes: a clinical and molecular review |journal=Am. J. Gastroenterol. |volume=100 |issue=2 |pages=476–90 |date=February 2005 |pmid=15667510 |doi=10.1111/j.1572-0241.2005.40237.x |url=}}</ref>
* The [[incidence]] of Bannayan-Riley-Ruvalcaba syndrome is approximately 1 per 200,000 individuals worldwide.<ref name="pmid26157835">{{cite journal |vauthors=Sagi SV, Ballard DD, Marks RA, Dunn KR, Kahi CJ |title=Bannayan Ruvalcaba Riley Syndrome |journal=ACG Case Rep J |volume=1 |issue=2 |pages=90–2 |date=January 2014 |pmid=26157835 |doi=10.14309/crj.2014.11 |url=}}</ref><ref name="pmid15667510">{{cite journal |vauthors=Schreibman IR, Baker M, Amos C, McGarrity TJ |title=The hamartomatous polyposis syndromes: a clinical and molecular review |journal=Am. J. Gastroenterol. |volume=100 |issue=2 |pages=476–90 |date=February 2005 |pmid=15667510 |doi=10.1111/j.1572-0241.2005.40237.x |url=}}</ref>


=== Prevalence ===
=== Prevalence ===
* The prevalence of ''[[PTEN (gene)|PTEN]]'' mutations [[Bannayan-Riley-Ruvalcaba syndrome]] is approximately 65%.
* The [[prevalence]] of [[PTEN]] mutations Bannayan-Riley-Ruvalcaba syndrome is approximately 65%.


=== '''Age''' ===
=== '''Age''' ===
* [[Bannayan-Riley-Ruvalcaba syndrome]] commonly affects individuals of younger age.<ref name="pmid19321504">{{cite journal |vauthors=Lynch NE, Lynch SA, McMenamin J, Webb D |title=Bannayan-Riley-Ruvalcaba syndrome: a cause of extreme macrocephaly and neurodevelopmental delay |journal=Arch. Dis. Child. |volume=94 |issue=7 |pages=553–4 |date=July 2009 |pmid=19321504 |doi=10.1136/adc.2008.155663 |url=}}</ref><ref name="pmid25549896">{{cite journal |vauthors=Busa T, Milh M, Degardin N, Girard N, Sigaudy S, Longy M, Olshchwang S, Sobol H, Chabrol B, Philip N |title=Clinical presentation of PTEN mutations in childhood in the absence of family history of Cowden syndrome |journal=Eur. J. Paediatr. Neurol. |volume=19 |issue=2 |pages=188–92 |date=March 2015 |pmid=25549896 |doi=10.1016/j.ejpn.2014.11.012 |url=}}</ref>
* Bannayan-Riley-Ruvalcaba syndrome commonly affects individuals of younger age.<ref name="pmid19321504">{{cite journal |vauthors=Lynch NE, Lynch SA, McMenamin J, Webb D |title=Bannayan-Riley-Ruvalcaba syndrome: a cause of extreme macrocephaly and neurodevelopmental delay |journal=Arch. Dis. Child. |volume=94 |issue=7 |pages=553–4 |date=July 2009 |pmid=19321504 |doi=10.1136/adc.2008.155663 |url=}}</ref><ref name="pmid25549896">{{cite journal |vauthors=Busa T, Milh M, Degardin N, Girard N, Sigaudy S, Longy M, Olshchwang S, Sobol H, Chabrol B, Philip N |title=Clinical presentation of PTEN mutations in childhood in the absence of family history of Cowden syndrome |journal=Eur. J. Paediatr. Neurol. |volume=19 |issue=2 |pages=188–92 |date=March 2015 |pmid=25549896 |doi=10.1016/j.ejpn.2014.11.012 |url=}}</ref>
* The [[median]] [[age]] for [[Bannayan-Riley-Ruvalcaba syndrome]] [[diagnosis]] is as young as five years.
* The [[median]] [[age]] for Bannayan-Riley-Ruvalcaba syndrome [[diagnosis]] is as young as five years.


*  
*


==Risk Factors==
==Risk Factors==
* Apart from mutations in PTEN gene there are no established risk factors for [[Bannayan-Riley-Ruvalcaba syndrome]] (BRRS).
* Apart from [[Mutation|mutations]] in [[PTEN (gene)|PTEN gene]] there are no established [[Risk factor|risk factors]] for Bannayan-Riley-Ruvalcaba syndrome (BRRS).


==Screening==
==Screening==
There is insufficient evidence to recommend routine [[Screening (medicine)|screening]] for [[Bannayan-Riley-Ruvalcaba syndrome]] (BRRS).
* There is insufficient evidence to recommend routine [[Screening (medicine)|screening]] for Bannayan-Riley-Ruvalcaba syndrome (BRRS).


==Natural History, Complications, and Prognosis==
==Natural History, Complications, and Prognosis==
'''Natural History'''
'''Natural History'''
* The symptoms of BRRS usually develop in the first decade of life, and start with symptoms such as [[developmental delay]], [[macrocephaly]] and [[Penis|penile]] lentigines.
* The [[Symptom|symptoms]] of BRRS usually develop in the first decade of life, and start with [[Symptom|symptoms]] such as [[developmental delay]], [[macrocephaly]] and [[Penis|penile]] lentigines.
'''Complications'''
'''Complications'''
* Common [[complications]] of [[Bannayan-Riley-Ruvalcaba syndrome]] (BRRS) include:<ref name="pmid20301661">{{cite journal |vauthors=Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, Eng C |title= |journal= |volume= |issue= |pages= |date= |pmid=20301661 |doi= |url=}}</ref><ref name="pmid211904482">{{cite journal |vauthors=Laury AR, Bongiovanni M, Tille JC, Kozakewich H, Nosé V |title=Thyroid pathology in PTEN-hamartoma tumor syndrome: characteristic findings of a distinct entity |journal=Thyroid |volume=21 |issue=2 |pages=135–44 |date=February 2011 |pmid=21190448 |doi=10.1089/thy.2010.0226 |url=}}</ref><ref name="pmid20962022">{{cite journal |vauthors=Smith JR, Marqusee E, Webb S, Nose V, Fishman SJ, Shamberger RC, Frates MC, Huang SA |title=Thyroid nodules and cancer in children with PTEN hamartoma tumor syndrome |journal=J. Clin. Endocrinol. Metab. |volume=96 |issue=1 |pages=34–7 |date=January 2011 |pmid=20962022 |doi=10.1210/jcem.96.3.zeg34a |url=}}</ref><ref name="pmid15067177">{{cite journal |vauthors=Zambrano E, Holm I, Glickman J, Huang S, Perez-Atayde A, Kozakewich HP, Shamberger RC, Nosé V |title=Abnormal distribution and hyperplasia of thyroid C-cells in PTEN-associated tumor syndromes |journal=Endocr. Pathol. |volume=15 |issue=1 |pages=55–64 |date=2004 |pmid=15067177 |doi= |url=}}</ref><ref name="pmid26700035">{{cite journal |vauthors=Ngeow J, Sesock K, Eng C |title=Breast cancer risk and clinical implications for germline PTEN mutation carriers |journal=Breast Cancer Res. Treat. |volume=165 |issue=1 |pages=1–8 |date=August 2017 |pmid=26700035 |doi=10.1007/s10549-015-3665-z |url=}}</ref><ref name="pmid26185318">{{cite journal |vauthors=Cameselle-Teijeiro J, Fachal C, Cabezas-Agrícola JM, Alfonsín-Barreiro N, Abdulkader I, Vega-Gliemmo A, Hermo JA |title=Thyroid Pathology Findings in Cowden Syndrome: A Clue for the Diagnosis of the PTEN Hamartoma Tumor Syndrome |journal=Am. J. Clin. Pathol. |volume=144 |issue=2 |pages=322–8 |date=August 2015 |pmid=26185318 |doi=10.1309/AJCP84INGJUVTBME |url=}}</ref>
* Common [[complications]] of Bannayan-Riley-Ruvalcaba syndrome (BRRS) include:<ref name="pmid20301661">{{cite journal |vauthors=Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, Eng C |title= |journal= |volume= |issue= |pages= |date= |pmid=20301661 |doi= |url=}}</ref><ref name="pmid211904482">{{cite journal |vauthors=Laury AR, Bongiovanni M, Tille JC, Kozakewich H, Nosé V |title=Thyroid pathology in PTEN-hamartoma tumor syndrome: characteristic findings of a distinct entity |journal=Thyroid |volume=21 |issue=2 |pages=135–44 |date=February 2011 |pmid=21190448 |doi=10.1089/thy.2010.0226 |url=}}</ref><ref name="pmid20962022">{{cite journal |vauthors=Smith JR, Marqusee E, Webb S, Nose V, Fishman SJ, Shamberger RC, Frates MC, Huang SA |title=Thyroid nodules and cancer in children with PTEN hamartoma tumor syndrome |journal=J. Clin. Endocrinol. Metab. |volume=96 |issue=1 |pages=34–7 |date=January 2011 |pmid=20962022 |doi=10.1210/jcem.96.3.zeg34a |url=}}</ref><ref name="pmid15067177">{{cite journal |vauthors=Zambrano E, Holm I, Glickman J, Huang S, Perez-Atayde A, Kozakewich HP, Shamberger RC, Nosé V |title=Abnormal distribution and hyperplasia of thyroid C-cells in PTEN-associated tumor syndromes |journal=Endocr. Pathol. |volume=15 |issue=1 |pages=55–64 |date=2004 |pmid=15067177 |doi= |url=}}</ref><ref name="pmid26700035">{{cite journal |vauthors=Ngeow J, Sesock K, Eng C |title=Breast cancer risk and clinical implications for germline PTEN mutation carriers |journal=Breast Cancer Res. Treat. |volume=165 |issue=1 |pages=1–8 |date=August 2017 |pmid=26700035 |doi=10.1007/s10549-015-3665-z |url=}}</ref><ref name="pmid26185318">{{cite journal |vauthors=Cameselle-Teijeiro J, Fachal C, Cabezas-Agrícola JM, Alfonsín-Barreiro N, Abdulkader I, Vega-Gliemmo A, Hermo JA |title=Thyroid Pathology Findings in Cowden Syndrome: A Clue for the Diagnosis of the PTEN Hamartoma Tumor Syndrome |journal=Am. J. Clin. Pathol. |volume=144 |issue=2 |pages=322–8 |date=August 2015 |pmid=26185318 |doi=10.1309/AJCP84INGJUVTBME |url=}}</ref><ref name="pmid145741565">{{cite journal |vauthors=Hendriks YM, Verhallen JT, van der Smagt JJ, Kant SG, Hilhorst Y, Hoefsloot L, Hansson KB, van der Straaten PJ, Boutkan H, Breuning MH, Vasen HF, Bröcker-Vriends AH |title=Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases |journal=Fam. Cancer |volume=2 |issue=2 |pages=79–85 |date=2003 |pmid=14574156 |doi= |url=}}</ref>
** Increased risk of following [[cancers]]:
** Increased risk of following [[cancers]]:
*** [[Thyroid cancer]]: Mostly commonly [[Follicular carcinoma of the Thyroid|follicular]], very rarely [[Papillary thyroid cancer|papillary]], but never [[medullary thyroid cancer]]
*** [[Thyroid cancer]]: Mostly commonly [[Follicular carcinoma of the Thyroid|follicular]], very rarely [[Papillary thyroid cancer|papillary]], but never [[medullary thyroid cancer]]
Line 88: Line 91:
*** [[Granulosa cell tumour|Granulosa cell tumor]] of the [[ovary]]
*** [[Granulosa cell tumour|Granulosa cell tumor]] of the [[ovary]]
'''Prognosis'''
'''Prognosis'''
* The [[prognosis]] is unknown for [[Bannayan-Riley-Ruvalcaba syndrome]] (BRRS).
* The [[prognosis]] is unknown for Bannayan-Riley-Ruvalcaba syndrome (BRRS).


==Diagnosis==
==Diagnosis==
'''Diagnostic Criteria'''
===Diagnostic Criteria===
* The [[diagnostic criteria]] of [[Bannayan-Riley-Ruvalcaba syndrome]] (BRRS) is based on the [[Cowden syndrome]]/PHTS criteria, which include:
* The [[diagnostic criteria]] of Bannayan-Riley-Ruvalcaba syndrome (BRRS) is based on the [[Cowden syndrome]]/PHTS criteria, which include:
'''Pilarski et al diagnostic criteria''':
'''Pilarski et al diagnostic criteria''':
* Pilarski et al [[diagnostic criteria]] is proposed by [[National Comprehensive Cancer Network]] (NCCN) which include<ref name="pmid203016612">{{cite journal |vauthors=Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, Eng C |title= |journal= |volume= |issue= |pages= |date= |pmid=20301661 |doi= |url=}}</ref>
* Pilarski et al [[diagnostic criteria]] is proposed by [[National Comprehensive Cancer Network]] (NCCN) which include<ref name="pmid203016612">{{cite journal |vauthors=Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, Eng C |title= |journal= |volume= |issue= |pages= |date= |pmid=20301661 |doi= |url=}}</ref>
* [[Diagnosis]] require
** Any two major positive [[criteria]] [[symptoms]] or
** One major and two minor positive [[criteria]] [[symptoms]]  or
** Three minor positive [[criteria]] [[symptoms]]
{| class="wikitable"
!
'''Major criteria'''<ref name="pmid203016613">{{cite journal |vauthors=Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, Eng C |title= |journal= |volume= |issue= |pages= |date= |pmid=20301661 |doi= |url=}}</ref>
'''Major criteria'''<ref name="pmid203016613">{{cite journal |vauthors=Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, Eng C |title= |journal= |volume= |issue= |pages= |date= |pmid=20301661 |doi= |url=}}</ref>
!'''Minor criteria'''<ref name="pmid203016614">{{cite journal |vauthors=Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, Eng C |title= |journal= |volume= |issue= |pages= |date= |pmid=20301661 |doi= |url=}}</ref>
|-
|
* [[Macrocephaly]] ([[occipital]] frontal circumference ≥97th percentile)  
* [[Macrocephaly]] ([[occipital]] frontal circumference ≥97th percentile)  
* [[Breast cancer]]  
* [[Breast cancer]]  
Line 102: Line 114:
* [[Gastrointestinal]] [[hamartomas]]  
* [[Gastrointestinal]] [[hamartomas]]  
* [[Penis|Penile]] [[pigmentation]]  
* [[Penis|Penile]] [[pigmentation]]  
'''Minor criteria'''<ref name="pmid203016614">{{cite journal |vauthors=Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, Eng C |title= |journal= |volume= |issue= |pages= |date= |pmid=20301661 |doi= |url=}}</ref>
|
* [[Autism spectrum disorder|Autism spectrum disorders]]
* [[Autism spectrum disorder|Autism spectrum disorders]]
** [[Intellectual disability]] (IQ ≤75)
** [[Intellectual disability]] (IQ ≤75)
Line 112: Line 124:
* [[Glycogenic acanthosis]] of the [[esophagus]]  
* [[Glycogenic acanthosis]] of the [[esophagus]]  
* [[Testicular]] [[lipomatosis]]
* [[Testicular]] [[lipomatosis]]
* [[Diagnosis]] require
|}
** Any two major positive [[criteria]] [[symptoms]] or
===History and Symptoms===
** One major and two minor positive [[criteria]] [[symptoms]] or
The most common [[Symptom|symptoms]] of Bannayan-Riley-Ruvalcaba syndrome (BRRS) include [[head]] enlargement, [[intellectual disability]], pigmented [[Skin lesion|skin lesions]] on [[penis]], and [[eye]] and [[ear]] morphology abnormality.
** Three minor positive [[criteria]] [[symptoms]]  
 
*
 
==History and Symptoms==


===Physical Examination===
===Physical Examination===
{| align="right"
|
[[File:Lipomas in BRRS.gif|alt=Lipomas in BRRS|thumb|'''Lipomas in BRRS''' Case courtesy Gabriela Maria Abreu Gontijo et al <ref>{{Cite web|url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3900354/|title=Lipomas in Bannayan-Riley-Ruvalcaba syndrome|last=|first=|date=|website=|archive-url=|archive-date=|dead-url=|access-date=}}</ref> |center|211x211px]]
|
[[File:Macrocephaly.gif|alt=Macrocephaly in BRRS|center|thumb|300x300px|'''[[Macrocephaly]] in BRRS''' Case courtesy Valentina Peiretti et al<ref>{{Cite web|url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3890226/|title=Macrocephaly in BRRS|last=|first=|date=|website=|archive-url=|archive-date=|dead-url=|access-date=}}</ref> ]]
|-
|
[[File:Thyroid in BRRS.gif|alt=Thyroid in BRRS|center|thumb|[[Thyroid]] involvement in BRRS Case courtesy Valentina Peiretti et al<ref>{{Cite web|url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3890226/|title=Thyroid|last=|first=|date=|website=|archive-url=|archive-date=|dead-url=|access-date=}}</ref>]]
|
[[File:Penile lentigines in BRRS .jpg|alt=Speckled penis|center|thumb|'''Speckled penis in BRRS''' Case courtesy of Corrado Romano et al<<ref>{{Cite web|url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3353286/|title=Speckled penis in a patient affected by Bannayan-Riley-Ruvalcaba syndrome|last=|first=|date=|website=|archive-url=|archive-date=|dead-url=|access-date=}}</ref>]]
|}
'''Skin'''
'''Skin'''
* [[Lipomas]]<ref name="pmid145741563">{{cite journal |vauthors=Hendriks YM, Verhallen JT, van der Smagt JJ, Kant SG, Hilhorst Y, Hoefsloot L, Hansson KB, van der Straaten PJ, Boutkan H, Breuning MH, Vasen HF, Bröcker-Vriends AH |title=Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases |journal=Fam. Cancer |volume=2 |issue=2 |pages=79–85 |date=2003 |pmid=14574156 |doi= |url=}}</ref>
* [[Lipomas]]<ref name="pmid145741563">{{cite journal |vauthors=Hendriks YM, Verhallen JT, van der Smagt JJ, Kant SG, Hilhorst Y, Hoefsloot L, Hansson KB, van der Straaten PJ, Boutkan H, Breuning MH, Vasen HF, Bröcker-Vriends AH |title=Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases |journal=Fam. Cancer |volume=2 |issue=2 |pages=79–85 |date=2003 |pmid=14574156 |doi= |url=}}</ref>
[[File:Lipomas in BRRS.gif|alt=Lipomas in BRRS|thumb|'''Lipomas in BRRS''' Case courtesy Gabriela Maria Abreu Gontijo et al <ref>{{Cite web|url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3900354/|title=Lipoma|last=|first=|date=|website=|archive-url=|archive-date=|dead-url=|access-date=}}</ref> |center|211x211px]]


'''HEENT'''
'''HEENT'''
* [[Macrocephaly|Macrocephaly:]] Very prominent and important feature of [[Bannayan-Riley-Ruvalcaba syndrome]] <ref name="pmid9661881">{{cite journal |vauthors=Carethers JM, Furnari FB, Zigman AF, Lavine JE, Jones MC, Graham GE, Teebi AS, Huang HJ, Ha HT, Chauhan DP, Chang CL, Cavenee WK, Boland CR |title=Absence of PTEN/MMAC1 germ-line mutations in sporadic Bannayan-Riley-Ruvalcaba syndrome |journal=Cancer Res. |volume=58 |issue=13 |pages=2724–6 |date=July 1998 |pmid=9661881 |doi= |url=}}</ref><ref name="pmid129380833">{{cite journal |vauthors=Eng C |title=PTEN: one gene, many syndromes |journal=Hum. Mutat. |volume=22 |issue=3 |pages=183–98 |date=September 2003 |pmid=12938083 |doi=10.1002/humu.10257 |url=}}</ref><ref name="pmid145741562">{{cite journal |vauthors=Hendriks YM, Verhallen JT, van der Smagt JJ, Kant SG, Hilhorst Y, Hoefsloot L, Hansson KB, van der Straaten PJ, Boutkan H, Breuning MH, Vasen HF, Bröcker-Vriends AH |title=Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases |journal=Fam. Cancer |volume=2 |issue=2 |pages=79–85 |date=2003 |pmid=14574156 |doi= |url=}}</ref>
* [[Macrocephaly|Macrocephaly:]] Very prominent and important feature of Bannayan-Riley-Ruvalcaba syndrome <ref name="pmid9661881">{{cite journal |vauthors=Carethers JM, Furnari FB, Zigman AF, Lavine JE, Jones MC, Graham GE, Teebi AS, Huang HJ, Ha HT, Chauhan DP, Chang CL, Cavenee WK, Boland CR |title=Absence of PTEN/MMAC1 germ-line mutations in sporadic Bannayan-Riley-Ruvalcaba syndrome |journal=Cancer Res. |volume=58 |issue=13 |pages=2724–6 |date=July 1998 |pmid=9661881 |doi= |url=}}</ref><ref name="pmid129380833">{{cite journal |vauthors=Eng C |title=PTEN: one gene, many syndromes |journal=Hum. Mutat. |volume=22 |issue=3 |pages=183–98 |date=September 2003 |pmid=12938083 |doi=10.1002/humu.10257 |url=}}</ref><ref name="pmid145741562">{{cite journal |vauthors=Hendriks YM, Verhallen JT, van der Smagt JJ, Kant SG, Hilhorst Y, Hoefsloot L, Hansson KB, van der Straaten PJ, Boutkan H, Breuning MH, Vasen HF, Bröcker-Vriends AH |title=Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases |journal=Fam. Cancer |volume=2 |issue=2 |pages=79–85 |date=2003 |pmid=14574156 |doi= |url=}}</ref>
** [[Macrocephaly|Macrocephaly]] ([[occipital]] frontal circumference ≥97th percentile)
**[[Macrocephaly|Macrocephaly]] ([[occipital]] frontal circumference ≥97th percentile)
** The [[macrocephaly]] of BRRS is symmetrical, and does not cause widening of the [[ventricles]] or raised [[ICP]] ([[intracerebral pressure]]).
** The [[macrocephaly]] of BRRS is symmetrical, and does not cause widening of the [[ventricles]] or raised [[ICP]] ([[intracerebral pressure]]).
* High [[palate]]  
* High [[palate]]  
* Downslanting [[palpebral fissures]] of the eyes
* Downslanting [[palpebral fissures]] of the [[eyes]]
* [[Strabismus]]
* [[Strabismus]]
* [[Amblyopia]]
* [[Amblyopia]]
'''Neck'''
'''Neck'''
* [[Thyromegaly]]-[[Hashimoto thyroiditis]]<ref name="pmid21190448">{{cite journal |vauthors=Laury AR, Bongiovanni M, Tille JC, Kozakewich H, Nosé V |title=Thyroid pathology in PTEN-hamartoma tumor syndrome: characteristic findings of a distinct entity |journal=Thyroid |volume=21 |issue=2 |pages=135–44 |date=February 2011 |pmid=21190448 |doi=10.1089/thy.2010.0226 |url=}}</ref>
* [[Thyromegaly]]-[[Hashimoto thyroiditis]]<ref name="pmid21190448">{{cite journal |vauthors=Laury AR, Bongiovanni M, Tille JC, Kozakewich H, Nosé V |title=Thyroid pathology in PTEN-hamartoma tumor syndrome: characteristic findings of a distinct entity |journal=Thyroid |volume=21 |issue=2 |pages=135–44 |date=February 2011 |pmid=21190448 |doi=10.1089/thy.2010.0226 |url=}}</ref>
'''Abdomen'''
'''Abdomen'''
* [[Hamartomatous]] [[polyps]] in [[gastrointestinal tract]]<ref name="pmid96618812">{{cite journal |vauthors=Carethers JM, Furnari FB, Zigman AF, Lavine JE, Jones MC, Graham GE, Teebi AS, Huang HJ, Ha HT, Chauhan DP, Chang CL, Cavenee WK, Boland CR |title=Absence of PTEN/MMAC1 germ-line mutations in sporadic Bannayan-Riley-Ruvalcaba syndrome |journal=Cancer Res. |volume=58 |issue=13 |pages=2724–6 |date=July 1998 |pmid=9661881 |doi= |url=}}</ref>
* [[Hamartomatous]] [[polyps]] in [[gastrointestinal tract]]<ref name="pmid96618812">{{cite journal |vauthors=Carethers JM, Furnari FB, Zigman AF, Lavine JE, Jones MC, Graham GE, Teebi AS, Huang HJ, Ha HT, Chauhan DP, Chang CL, Cavenee WK, Boland CR |title=Absence of PTEN/MMAC1 germ-line mutations in sporadic Bannayan-Riley-Ruvalcaba syndrome |journal=Cancer Res. |volume=58 |issue=13 |pages=2724–6 |date=July 1998 |pmid=9661881 |doi= |url=}}</ref>
* Intestinal [[juvenile polyposis]]<ref name="pmid15264272">{{cite journal |vauthors=Merg A, Howe JR |title=Genetic conditions associated with intestinal juvenile polyps |journal=Am J Med Genet C Semin Med Genet |volume=129C |issue=1 |pages=44–55 |date=August 2004 |pmid=15264272 |doi=10.1002/ajmg.c.30020 |url=}}</ref>
* Intestinal [[juvenile polyposis]]<ref name="pmid15264272">{{cite journal |vauthors=Merg A, Howe JR |title=Genetic conditions associated with intestinal juvenile polyps |journal=Am J Med Genet C Semin Med Genet |volume=129C |issue=1 |pages=44–55 |date=August 2004 |pmid=15264272 |doi=10.1002/ajmg.c.30020 |url=}}</ref>
'''Genitourinary'''
'''Genitourinary'''
[[File:BRRS.jpg|thumb|'''[[Penis|Penile]] [[Lentiginosis|lentigines]]''' Case courtesy of Corrado Romano et al.<ref>{{Cite web|url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3353286/|title=PTEN Gene|last=|first=|date=|website=|archive-url=|archive-date=|dead-url=|access-date=}}</ref>|alt=Penile lentigines|center]]
* [[Penis|Penile]] [[Lentiginosis|lentigines]] or speckled [[penis]]: Hallmark of Bannayan-Riley-Ruvalcaba syndrome (BRRS)<ref name="pmid129380832">{{cite journal |vauthors=Eng C |title=PTEN: one gene, many syndromes |journal=Hum. Mutat. |volume=22 |issue=3 |pages=183–98 |date=September 2003 |pmid=12938083 |doi=10.1002/humu.10257 |url=}}</ref>
* [[Penis|Penile]] [[Lentiginosis|lentigines]] or speckled [[penis]]: Hallmark of [[Bannayan-Riley-Ruvalcaba syndrome]] (BRRS)<ref name="pmid129380832">{{cite journal |vauthors=Eng C |title=PTEN: one gene, many syndromes |journal=Hum. Mutat. |volume=22 |issue=3 |pages=183–98 |date=September 2003 |pmid=12938083 |doi=10.1002/humu.10257 |url=}}</ref>
**[[Pigmentation]] spots of the [[male genitalia]]
** Pigmentation spots of the male genitalia
* [[Fistulae]]
* [[Fistulae]]
'''Neuromuscular'''
'''Neuromuscular'''
* [[Developmental]] delay: Could be mild to severe<ref name="pmid96618813">{{cite journal |vauthors=Carethers JM, Furnari FB, Zigman AF, Lavine JE, Jones MC, Graham GE, Teebi AS, Huang HJ, Ha HT, Chauhan DP, Chang CL, Cavenee WK, Boland CR |title=Absence of PTEN/MMAC1 germ-line mutations in sporadic Bannayan-Riley-Ruvalcaba syndrome |journal=Cancer Res. |volume=58 |issue=13 |pages=2724–6 |date=July 1998 |pmid=9661881 |doi= |url=}}</ref><ref name="pmid14574156">{{cite journal |vauthors=Hendriks YM, Verhallen JT, van der Smagt JJ, Kant SG, Hilhorst Y, Hoefsloot L, Hansson KB, van der Straaten PJ, Boutkan H, Breuning MH, Vasen HF, Bröcker-Vriends AH |title=Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases |journal=Fam. Cancer |volume=2 |issue=2 |pages=79–85 |date=2003 |pmid=14574156 |doi= |url=}}</ref>  
* [[Developmental]] delay: Could be mild to severe<ref name="pmid96618813">{{cite journal |vauthors=Carethers JM, Furnari FB, Zigman AF, Lavine JE, Jones MC, Graham GE, Teebi AS, Huang HJ, Ha HT, Chauhan DP, Chang CL, Cavenee WK, Boland CR |title=Absence of PTEN/MMAC1 germ-line mutations in sporadic Bannayan-Riley-Ruvalcaba syndrome |journal=Cancer Res. |volume=58 |issue=13 |pages=2724–6 |date=July 1998 |pmid=9661881 |doi= |url=}}</ref><ref name="pmid14574156">{{cite journal |vauthors=Hendriks YM, Verhallen JT, van der Smagt JJ, Kant SG, Hilhorst Y, Hoefsloot L, Hansson KB, van der Straaten PJ, Boutkan H, Breuning MH, Vasen HF, Bröcker-Vriends AH |title=Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases |journal=Fam. Cancer |volume=2 |issue=2 |pages=79–85 |date=2003 |pmid=14574156 |doi= |url=}}</ref>
* [[PTEN (gene)|PTEN]] [[hamartoma]] of [[soft tissue]]  
* [[PTEN (gene)|PTEN]] [[hamartoma]] of [[soft tissue]]  
* Joint [[hypermobility]]
* Joint [[hypermobility]]
* [[Arteriovenous shunts]]  
* [[Arteriovenous shunts]]  


==Laboratory Findings==
===Laboratory Findings===
'''Mutation testing'''<ref name="pmid216593472">{{cite journal |vauthors=Pilarski R, Stephens JA, Noss R, Fisher JL, Prior TW |title=Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features |journal=J. Med. Genet. |volume=48 |issue=8 |pages=505–12 |date=August 2011 |pmid=21659347 |doi=10.1136/jmg.2011.088807 |url=}}</ref><ref name="pmid24136893">{{cite journal |vauthors=Pilarski R, Burt R, Kohlman W, Pho L, Shannon KM, Swisher E |title=Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria |journal=J. Natl. Cancer Inst. |volume=105 |issue=21 |pages=1607–16 |date=November 2013 |pmid=24136893 |doi=10.1093/jnci/djt277 |url=}}</ref>
'''Mutation testing'''<ref name="pmid216593472">{{cite journal |vauthors=Pilarski R, Stephens JA, Noss R, Fisher JL, Prior TW |title=Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features |journal=J. Med. Genet. |volume=48 |issue=8 |pages=505–12 |date=August 2011 |pmid=21659347 |doi=10.1136/jmg.2011.088807 |url=}}</ref><ref name="pmid24136893">{{cite journal |vauthors=Pilarski R, Burt R, Kohlman W, Pho L, Shannon KM, Swisher E |title=Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria |journal=J. Natl. Cancer Inst. |volume=105 |issue=21 |pages=1607–16 |date=November 2013 |pmid=24136893 |doi=10.1093/jnci/djt277 |url=}}</ref>
* ''[[PTEN (gene)|PTEN]]'' [[Mutations|mutation]] testing by following:
*[[PTEN (gene)|PTEN]] [[Mutations|mutation]] testing by following:
** Sequence analysis of [[coding region]]
** Sequence analysis of [[coding region]]
** Deletion/duplication analysis
** Deletion/duplication analysis
** Sequence analysis of [[promoter region]]
** Sequence analysis of [[promoter region]]


*  
===Imaging Findings===
* Head [[Magnetic resonance imaging|MRI]] may be helpful in the [[diagnosis]] of Bannayan-Riley-Ruvalcaba syndrome. Findings on [[MRI]] suggestive of Bannayan-Riley-Ruvalcaba syndrome include:<ref name="BhargavaAu Yong20132">{{cite journal|last1=Bhargava|first1=R.|last2=Au Yong|first2=K. J.|last3=Leonard|first3=N.|title=Bannayan-Riley-Ruvalcaba Syndrome: MRI Neuroimaging Features in a Series of 7 Patients|journal=American Journal of Neuroradiology|volume=35|issue=2|year=2013|pages=402–406|issn=0195-6108|doi=10.3174/ajnr.A3680}}</ref><ref name="pmid23907246">{{cite journal |vauthors=Bhargava R, Au Yong KJ, Leonard N |title=Bannayan-Riley-Ruvalcaba syndrome: MRI neuroimaging features in a series of 7 patients |journal=AJNR Am J Neuroradiol |volume=35 |issue=2 |pages=402–6 |date=February 2014 |pmid=23907246 |doi=10.3174/ajnr.A3680 |url=}}</ref>
**[[White matter]] [[cysts]] in the [[parietal lobe]], [[frontal lobe]], and [[temporal lobe]]
** T2 hyperintensities associated with [[macrocephaly]]


==Imaging Findings==
===Other Diagnostic Studies===
* There are no imaging findings associated with [[Bannayan-Riley-Ruvalcaba syndrome]].
* There are no other diagnostic studies associated with Bannayan-Riley-Ruvalcaba syndrome.
 
==Other Diagnostic Studies==
* There are no other diagnostic studies associated with [[Bannayan-Riley-Ruvalcaba syndrome]].


==Treatment==
==Treatment==
===Medical Therapy===
===Medical Therapy===
* There is no treatment for [[Bannayan-Riley-Ruvalcaba syndrome]]; the mainstay of therapy is treating the symptoms present in the individual like:
* There is no treatment for Bannayan-Riley-Ruvalcaba syndrome; the mainstay of [[therapy]] is treating the [[Symptom|symptoms]] present in the individual like:
'''Mucocutaneous Manifestations'''
'''Mucocutaneous Manifestations'''
* [[Mucocutaneous]] manifestations can be treated with the help of:
* [[Mucocutaneous]] manifestations can be treated with the help of:<ref name="pmid203016615">{{cite journal |vauthors=Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, Eng C |title= |journal= |volume= |issue= |pages= |date= |pmid=20301661 |doi= |url=}}</ref>
 
* Preferred regimen (1): 5-[[Fluorouracil]]
* Preferred regimen (1): 5-[[Fluorouracil]]
* [[Curettage]]
* [[Curettage]]
Line 178: Line 193:


===Surgery===
===Surgery===
* Surgery is not the mainstay of treatment for [[Bannayan-Riley-Ruvalcaba syndrome]].
* [[Surgery]] is not the mainstay of treatment for Bannayan-Riley-Ruvalcaba syndrome.


===Prevention===
===Prevention===
* There are no established measures for the primary or secondary prevention of [[Bannayan-Riley-Ruvalcaba syndrome]].
* There are no established measures for the [[Primary prevention|primary]] or [[secondary prevention]] of Bannayan-Riley-Ruvalcaba syndrome.


==References==
==References==
{{Reflist|2}}
{{Reflist|2}}

Latest revision as of 19:07, 2 October 2019

Template:Bannayan-Riley-Ruvalcaba syndrome Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]

Synonyms and keywords: BRRS, Ruvalcaba-Myhre syndrome, Ruvalcaba-Myhre-Smith syndrome, Riley-Smith syndrome, Bannayan syndrome, or Bannayan-Zonana syndrome

Overview

Bannayan-Riley-Ruvalcaba syndrome [1]

(BRRS)/Bannayan-Zonana syndrome is a rare hamartomatous disorder with occurrence of multiple subcutaneous lipomas, macrocephaly and hemangiomas. Bannayan-Riley-Ruvalcaba syndrome (BRRS) is transmitted in autosomal dominant pattern. Bannayan-Riley-Ruvalcaba syndrome (BRRS) was first discovered by Ruvalcaba, in 1980. It is understood that Bannayan-Riley-Ruvalcaba syndrome (BRRS) is caused by genetic mutations. The symptoms of BRRS usually develop in the first decade of life. The prognosis is unknown for Bannayan-Riley-Ruvalcaba syndrome (BRRS). Bannayan-Riley-Ruvalcaba syndrome must be differentiated from CLOVE syndromes. The incidence of Bannayan-Riley-Ruvalcaba syndrome is approximately 1 per 200,000 individuals worldwide. Head MRI may be helpful in the diagnosis of Bannayan-Riley-Ruvalcaba syndrome. There is no treatment for Bannayan-Riley-Ruvalcaba syndrome.

Historical Perspective

  • Bannayan-Riley-Ruvalcaba syndrome (BRRS) was first discovered by Ruvalcaba, in 1980.[2]
  • Bannayan-Riley-Ruvalcaba syndrome was also mentioned with different names previously by different doctors thinking that they were describing a new condition and the names are as follows:
    • Ruvalcaba-Myhre syndrome
    • Riley-Smith syndrome
    • Bannayan-Zonana syndrome

Classification

  • There is no established system for the classification of Bannayan-Riley-Ruvalcaba syndrome (BRRS) .

Pathophysiologya

Causes

PTEN Gene
PTEN Gene[10]

Genetic Cause

Differentiating Bannayan-Riley-Ruvalcaba syndrome from Other Diseases

Epidemiology and Demographics

Incidence

  • The incidence of Bannayan-Riley-Ruvalcaba syndrome is approximately 1 per 200,000 individuals worldwide.[21][22]

Prevalence

  • The prevalence of PTEN mutations Bannayan-Riley-Ruvalcaba syndrome is approximately 65%.

Age

  • Bannayan-Riley-Ruvalcaba syndrome commonly affects individuals of younger age.[23][24]
  • The median age for Bannayan-Riley-Ruvalcaba syndrome diagnosis is as young as five years.

Risk Factors

Screening

  • There is insufficient evidence to recommend routine screening for Bannayan-Riley-Ruvalcaba syndrome (BRRS).

Natural History, Complications, and Prognosis

Natural History

Complications

Prognosis

  • The prognosis is unknown for Bannayan-Riley-Ruvalcaba syndrome (BRRS).

Diagnosis

Diagnostic Criteria

Pilarski et al diagnostic criteria:

Major criteria[33]

Minor criteria[34]

History and Symptoms

The most common symptoms of Bannayan-Riley-Ruvalcaba syndrome (BRRS) include head enlargement, intellectual disability, pigmented skin lesions on penis, and eye and ear morphology abnormality.

Physical Examination

Lipomas in BRRS
Lipomas in BRRS Case courtesy Gabriela Maria Abreu Gontijo et al [35]
Macrocephaly in BRRS
Macrocephaly in BRRS Case courtesy Valentina Peiretti et al[36]
Thyroid in BRRS
Thyroid involvement in BRRS Case courtesy Valentina Peiretti et al[37]
Speckled penis
Speckled penis in BRRS Case courtesy of Corrado Romano et al<[38]

Skin

HEENT

Neck

Abdomen

Genitourinary

Neuromuscular

Laboratory Findings

Mutation testing[49][50]

Imaging Findings

Other Diagnostic Studies

  • There are no other diagnostic studies associated with Bannayan-Riley-Ruvalcaba syndrome.

Treatment

Medical Therapy

  • There is no treatment for Bannayan-Riley-Ruvalcaba syndrome; the mainstay of therapy is treating the symptoms present in the individual like:

Mucocutaneous Manifestations

Surgery

  • Surgery is not the mainstay of treatment for Bannayan-Riley-Ruvalcaba syndrome.

Prevention

References

  1. ↑ "Autosomal dominant pattern in BRRS".
  2. ↑ Lee SH, Ryoo E, Tchah H (March 2017). "Bannayan-Riley-Ruvalcaba Syndrome in a Patient with a PTEN Mutation Identified by Chromosomal Microarray Analysis: A Case Report". Pediatr Gastroenterol Hepatol Nutr. 20 (1): 65–70. doi:10.5223/pghn.2017.20.1.65. PMC 5385310. PMID 28401059.
  3. ↑ Lachlan KL, Lucassen AM, Bunyan D, Temple IK (September 2007). "Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers". J. Med. Genet. 44 (9): 579–85. doi:10.1136/jmg.2007.049981. PMC 2597943. PMID 17526800.
  4. ↑ Bonneau D, Longy M (2000). "Mutations of the human PTEN gene". Hum. Mutat. 16 (2): 109–22. doi:10.1002/1098-1004(200008)16:2<109::AID-HUMU3>3.0.CO;2-0. PMID 10923032.
  5. ↑ Pilarski R, Stephens JA, Noss R, Fisher JL, Prior TW (August 2011). "Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features". J. Med. Genet. 48 (8): 505–12. doi:10.1136/jmg.2011.088807. PMID 21659347.
  6. ↑ Lachlan KL, Lucassen AM, Bunyan D, Temple IK (September 2007). "Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers". J. Med. Genet. 44 (9): 579–85. doi:10.1136/jmg.2007.049981. PMC 2597943. PMID 17526800.
  7. ↑ Marsh DJ, Kum JB, Lunetta KL, Bennett MJ, Gorlin RJ, Ahmed SF, Bodurtha J, Crowe C, Curtis MA, Dasouki M, Dunn T, Feit H, Geraghty MT, Graham JM, Hodgson SV, Hunter A, Korf BR, Manchester D, Miesfeldt S, Murday VA, Nathanson KL, Parisi M, Pober B, Romano C, Eng C (August 1999). "PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome". Hum. Mol. Genet. 8 (8): 1461–72. PMID 10400993.
  8. ↑ Bhargava, R.; Au Yong, K. J.; Leonard, N. (2013). "Bannayan-Riley-Ruvalcaba Syndrome: MRI Neuroimaging Features in a Series of 7 Patients". American Journal of Neuroradiology. 35 (2): 402–406. doi:10.3174/ajnr.A3680. ISSN 0195-6108.
  9. ↑ Eng C (September 2003). "PTEN: one gene, many syndromes". Hum. Mutat. 22 (3): 183–98. doi:10.1002/humu.10257. PMID 12938083.
  10. ↑ [Public Domain, https://commons.wikimedia.org/w/index.php?curid=2234618 "PTEn gene"] Check |url= value (help).
  11. ↑ Zhou XP, Waite KA, Pilarski R, Hampel H, Fernandez MJ, Bos C, Dasouki M, Feldman GL, Greenberg LA, Ivanovich J, Matloff E, Patterson A, Pierpont ME, Russo D, Nassif NT, Eng C (August 2003). "Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway". Am. J. Hum. Genet. 73 (2): 404–11. doi:10.1086/377109. PMC 1180378. PMID 12844284.
  12. ↑ Blumenthal GM, Dennis PA (November 2008). "PTEN hamartoma tumor syndromes". Eur. J. Hum. Genet. 16 (11): 1289–300. doi:10.1038/ejhg.2008.162. PMID 18781191.
  13. ↑ Poropat, Federico; Maschio, Massimo; Martelossi, Stefano; Ventura, Alessandro; Taddio, Andrea (2015). "Bannayan-Riley-Ruvalcaba Syndrome". Journal of Pediatric Gastroenterology and Nutrition. 60 (6): e48. doi:10.1097/MPG.0b013e31829ef86f. ISSN 0277-2116.
  14. ↑ Hendriks YM, Verhallen JT, van der Smagt JJ, Kant SG, Hilhorst Y, Hoefsloot L, Hansson KB, van der Straaten PJ, Boutkan H, Breuning MH, Vasen HF, Bröcker-Vriends AH (2003). "Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases". Fam. Cancer. 2 (2): 79–85. PMID 14574156.
  15. ↑ Eng C (September 2003). "PTEN: one gene, many syndromes". Hum. Mutat. 22 (3): 183–98. doi:10.1002/humu.10257. PMID 12938083.
  16. ↑ Figer A, Kaplan A, Frydman M, Lev D, Paswell J, Papa MZ, Goldman B, Friedman E (October 2002). "Germline mutations in the PTEN gene in Israeli patients with Bannayan-Riley-Ruvalcaba syndrome and women with familial breast cancer". Clin. Genet. 62 (4): 298–302. PMID 12372056.
  17. ↑ Alomari AI (January 2009). "Characterization of a distinct syndrome that associates complex truncal overgrowth, vascular, and acral anomalies: a descriptive study of 18 cases of CLOVES syndrome". Clin. Dysmorphol. 18 (1): 1–7. doi:10.1097/MCD.0b013e328317a716. PMID 19011570.
  18. ↑ Sapp JC, Turner JT, van de Kamp JM, van Dijk FS, Lowry RB, Biesecker LG (December 2007). "Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients". Am. J. Med. Genet. A. 143A (24): 2944–58. doi:10.1002/ajmg.a.32023. PMID 17963221.
  19. ↑ Acosta S, Torres V, Paulos M, Cifuentes I (April 2017). "CLOVES Syndrome: Severe Neonatal Presentation". J Clin Diagn Res. 11 (4): TR01–TR03. doi:10.7860/JCDR/2017/23801.9719. PMC 5449880. PMID 28571234.
  20. ↑ Michel ME, Konczyk DJ, Yeung KS, Murillo R, Vivero MP, Hall AM, Zurakowski D, Adams D, Gupta A, Huang AY, Chung B, Warman ML (May 2018). "Causal somatic mutations in urine DNA from persons with the CLOVES subgroup of the PIK3CA-related overgrowth spectrum". Clin. Genet. 93 (5): 1075–1080. doi:10.1111/cge.13195. PMID 29231959. Vancouver style error: initials (help)
  21. ↑ Sagi SV, Ballard DD, Marks RA, Dunn KR, Kahi CJ (January 2014). "Bannayan Ruvalcaba Riley Syndrome". ACG Case Rep J. 1 (2): 90–2. doi:10.14309/crj.2014.11. PMID 26157835.
  22. ↑ Schreibman IR, Baker M, Amos C, McGarrity TJ (February 2005). "The hamartomatous polyposis syndromes: a clinical and molecular review". Am. J. Gastroenterol. 100 (2): 476–90. doi:10.1111/j.1572-0241.2005.40237.x. PMID 15667510.
  23. ↑ Lynch NE, Lynch SA, McMenamin J, Webb D (July 2009). "Bannayan-Riley-Ruvalcaba syndrome: a cause of extreme macrocephaly and neurodevelopmental delay". Arch. Dis. Child. 94 (7): 553–4. doi:10.1136/adc.2008.155663. PMID 19321504.
  24. ↑ Busa T, Milh M, Degardin N, Girard N, Sigaudy S, Longy M, Olshchwang S, Sobol H, Chabrol B, Philip N (March 2015). "Clinical presentation of PTEN mutations in childhood in the absence of family history of Cowden syndrome". Eur. J. Paediatr. Neurol. 19 (2): 188–92. doi:10.1016/j.ejpn.2014.11.012. PMID 25549896.
  25. ↑ Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean L, Stephens K, Amemiya A, Eng C. PMID 20301661. Vancouver style error: initials (help); Missing or empty |title= (help)
  26. ↑ Laury AR, Bongiovanni M, Tille JC, Kozakewich H, Nosé V (February 2011). "Thyroid pathology in PTEN-hamartoma tumor syndrome: characteristic findings of a distinct entity". Thyroid. 21 (2): 135–44. doi:10.1089/thy.2010.0226. PMID 21190448.
  27. ↑ Smith JR, Marqusee E, Webb S, Nose V, Fishman SJ, Shamberger RC, Frates MC, Huang SA (January 2011). "Thyroid nodules and cancer in children with PTEN hamartoma tumor syndrome". J. Clin. Endocrinol. Metab. 96 (1): 34–7. doi:10.1210/jcem.96.3.zeg34a. PMID 20962022.
  28. ↑ Zambrano E, Holm I, Glickman J, Huang S, Perez-Atayde A, Kozakewich HP, Shamberger RC, Nosé V (2004). "Abnormal distribution and hyperplasia of thyroid C-cells in PTEN-associated tumor syndromes". Endocr. Pathol. 15 (1): 55–64. PMID 15067177.
  29. ↑ Ngeow J, Sesock K, Eng C (August 2017). "Breast cancer risk and clinical implications for germline PTEN mutation carriers". Breast Cancer Res. Treat. 165 (1): 1–8. doi:10.1007/s10549-015-3665-z. PMID 26700035.
  30. ↑ Cameselle-Teijeiro J, Fachal C, Cabezas-Agrícola JM, Alfonsín-Barreiro N, Abdulkader I, Vega-Gliemmo A, Hermo JA (August 2015). "Thyroid Pathology Findings in Cowden Syndrome: A Clue for the Diagnosis of the PTEN Hamartoma Tumor Syndrome". Am. J. Clin. Pathol. 144 (2): 322–8. doi:10.1309/AJCP84INGJUVTBME. PMID 26185318.
  31. ↑ Hendriks YM, Verhallen JT, van der Smagt JJ, Kant SG, Hilhorst Y, Hoefsloot L, Hansson KB, van der Straaten PJ, Boutkan H, Breuning MH, Vasen HF, Bröcker-Vriends AH (2003). "Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases". Fam. Cancer. 2 (2): 79–85. PMID 14574156.
  32. ↑ Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean L, Stephens K, Amemiya A, Eng C. PMID 20301661. Vancouver style error: initials (help); Missing or empty |title= (help)
  33. ↑ Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean L, Stephens K, Amemiya A, Eng C. PMID 20301661. Vancouver style error: initials (help); Missing or empty |title= (help)
  34. ↑ Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean L, Stephens K, Amemiya A, Eng C. PMID 20301661. Vancouver style error: initials (help); Missing or empty |title= (help)
  35. ↑ "Lipomas in Bannayan-Riley-Ruvalcaba syndrome".
  36. ↑ "Macrocephaly in BRRS".
  37. ↑ "Thyroid".
  38. ↑ "Speckled penis in a patient affected by Bannayan-Riley-Ruvalcaba syndrome".
  39. ↑ Hendriks YM, Verhallen JT, van der Smagt JJ, Kant SG, Hilhorst Y, Hoefsloot L, Hansson KB, van der Straaten PJ, Boutkan H, Breuning MH, Vasen HF, Bröcker-Vriends AH (2003). "Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases". Fam. Cancer. 2 (2): 79–85. PMID 14574156.
  40. ↑ Carethers JM, Furnari FB, Zigman AF, Lavine JE, Jones MC, Graham GE, Teebi AS, Huang HJ, Ha HT, Chauhan DP, Chang CL, Cavenee WK, Boland CR (July 1998). "Absence of PTEN/MMAC1 germ-line mutations in sporadic Bannayan-Riley-Ruvalcaba syndrome". Cancer Res. 58 (13): 2724–6. PMID 9661881.
  41. ↑ Eng C (September 2003). "PTEN: one gene, many syndromes". Hum. Mutat. 22 (3): 183–98. doi:10.1002/humu.10257. PMID 12938083.
  42. ↑ Hendriks YM, Verhallen JT, van der Smagt JJ, Kant SG, Hilhorst Y, Hoefsloot L, Hansson KB, van der Straaten PJ, Boutkan H, Breuning MH, Vasen HF, Bröcker-Vriends AH (2003). "Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases". Fam. Cancer. 2 (2): 79–85. PMID 14574156.
  43. ↑ Laury AR, Bongiovanni M, Tille JC, Kozakewich H, Nosé V (February 2011). "Thyroid pathology in PTEN-hamartoma tumor syndrome: characteristic findings of a distinct entity". Thyroid. 21 (2): 135–44. doi:10.1089/thy.2010.0226. PMID 21190448.
  44. ↑ Carethers JM, Furnari FB, Zigman AF, Lavine JE, Jones MC, Graham GE, Teebi AS, Huang HJ, Ha HT, Chauhan DP, Chang CL, Cavenee WK, Boland CR (July 1998). "Absence of PTEN/MMAC1 germ-line mutations in sporadic Bannayan-Riley-Ruvalcaba syndrome". Cancer Res. 58 (13): 2724–6. PMID 9661881.
  45. ↑ Merg A, Howe JR (August 2004). "Genetic conditions associated with intestinal juvenile polyps". Am J Med Genet C Semin Med Genet. 129C (1): 44–55. doi:10.1002/ajmg.c.30020. PMID 15264272.
  46. ↑ Eng C (September 2003). "PTEN: one gene, many syndromes". Hum. Mutat. 22 (3): 183–98. doi:10.1002/humu.10257. PMID 12938083.
  47. ↑ Carethers JM, Furnari FB, Zigman AF, Lavine JE, Jones MC, Graham GE, Teebi AS, Huang HJ, Ha HT, Chauhan DP, Chang CL, Cavenee WK, Boland CR (July 1998). "Absence of PTEN/MMAC1 germ-line mutations in sporadic Bannayan-Riley-Ruvalcaba syndrome". Cancer Res. 58 (13): 2724–6. PMID 9661881.
  48. ↑ Hendriks YM, Verhallen JT, van der Smagt JJ, Kant SG, Hilhorst Y, Hoefsloot L, Hansson KB, van der Straaten PJ, Boutkan H, Breuning MH, Vasen HF, Bröcker-Vriends AH (2003). "Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases". Fam. Cancer. 2 (2): 79–85. PMID 14574156.
  49. ↑ Pilarski R, Stephens JA, Noss R, Fisher JL, Prior TW (August 2011). "Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features". J. Med. Genet. 48 (8): 505–12. doi:10.1136/jmg.2011.088807. PMID 21659347.
  50. ↑ Pilarski R, Burt R, Kohlman W, Pho L, Shannon KM, Swisher E (November 2013). "Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria". J. Natl. Cancer Inst. 105 (21): 1607–16. doi:10.1093/jnci/djt277. PMID 24136893.
  51. ↑ Bhargava, R.; Au Yong, K. J.; Leonard, N. (2013). "Bannayan-Riley-Ruvalcaba Syndrome: MRI Neuroimaging Features in a Series of 7 Patients". American Journal of Neuroradiology. 35 (2): 402–406. doi:10.3174/ajnr.A3680. ISSN 0195-6108.
  52. ↑ Bhargava R, Au Yong KJ, Leonard N (February 2014). "Bannayan-Riley-Ruvalcaba syndrome: MRI neuroimaging features in a series of 7 patients". AJNR Am J Neuroradiol. 35 (2): 402–6. doi:10.3174/ajnr.A3680. PMID 23907246.
  53. ↑ Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean L, Stephens K, Amemiya A, Eng C. PMID 20301661. Vancouver style error: initials (help); Missing or empty |title= (help)
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